Results 221 to 230 of about 2,872,819 (305)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Parents With an Intellectual Disability in Vietnam: An Overview of the Current Situation From Professionals' Perspectives. [PDF]

J Appl Res Intellect Disabil
Tran TLT, Nguyen HCT, Tran NBT.
europepmc   +1 more source

‘Giving Back to Our Community’: The Retention of the Aboriginal and Torres Strait Islander Disability Workforce in New South Wales, Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Aboriginal and Torres Strait Islander people of Australia require culturally responsive services. The Australian government has committed to establishing strategies to increase the size of the Aboriginal and Torres Strait Islander disability workforce; however, there is scant research on the factors influencing retention.
J. Gwynn, J. Gilroy, S. Peter, F. Talbot, K. Bulkeley, C. Alcorso, K. Gwynne, B. Rambaldini, A. Haines, M. Lincoln   +9 more
wiley   +1 more source

A case of transverse colon volvulus in a young woman with intellectual disability: a case report. [PDF]

Int J Surg Case Rep
Keiany F, Alibakhshi A, Shabani Mofrad N, Moshajjari M, Abid AL, Rezaei O.   +5 more
europepmc   +1 more source

Hidden in the Labour Market: An Intersectional Latent Class Analysis of Discouraged Workers in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT This study employs an intersectionality‐informed latent class analysis (LCA) to examine the hidden diversity of discouraged workers in Australia. Drawing on nationally representative data from the Household, Income and Labour Dynamics in Australia Survey, we identified six empirically distinct subgroups defined by intersecting demographic and ...
Sora Lee, Woojin Kang
wiley   +1 more source

Why do we need national guidelines for adults with intellectual disability and dementia?

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2015
Matthew P. Janicki, Seth M. Keller
doaj   +1 more source

Epilepsy and Intellectual Disability in a Boy with a 2q13 Microdeletion Affecting the <i>BUB1</i> Gene. [PDF]

Pediatr Rep
Picos-Cárdenas VJ, Avendaño-Gálvez RI, De la Herrán-Arita AK, Calderón-Zamora L, Cervín-Serrano S, Contreras-Gutiérrez JA, Cedano-Prieto DM, Meza-Espinoza JP.   +7 more
europepmc   +1 more source

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source